Fucosidase Alpha L1, Tissue (FUCa1)

This enzyme is also called alpha-fucosidase. This enzyme participates in n-glycan degradation and glycan structures - degradation.Alpha-Fucosidase is an enzyme that breaks down fucose.Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.